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Table 3 β globin mutations identified in 117 patients with TI phenotype.

From: The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity

Mutation

Type of thal

Location

No. of Chr.

Total (%)

   

Type I

Type II

 

-28 (A→G)

β+

5'UTR

42

1

43(20.1%)

CD 41-42(-CTTT)

β0

Exon

39

3

42(19.6%)

CD 17 (A→T)

β0

Exon

29

5

34(15.9%)

CD 26 (G→A)

Hb E

Exon

27

0

27(12.6%)

IVS-2-654 (C→T)

β0

Intron

12

8

20(9.3%)

IVS-2-5 (G→C)

β+

Intron

11

0

11(5.1%)

CD 71/72 (+A)

β0

Exon

6

2

8(3.7%)

SEA-HPFH

HPFH

 

7

0

7(3.3%)

IVS-1-1 (G→T)

β0

Intron

5

0

5(2. 3%)

-29(A→G)

β+

5'UTR

5

0

5(2.3%)

Chinese Gγ+(Aγδβ)0

δβ thal

 

4

0

4(1.9%)

CD 43 (G→T)

β0

Exon

2

0

2(0.9%)

-73(A→T)

β+

5'UTR

1

0

1(0.5%)

Term CD +32(A→C)1

β+

3'UTR

1

0

1(0.5%)

Cap+39 (C→T)2

β++

5'UTR

1

0

1(0.5%)

CD 15/16 (+G)

β0

Exon

1

0

1(0.5%)

CD 27/28(+C)

β0

Exon

1

0

1(0.5%)

CD 53(-T)

βdominant

Exon

0

1

1(0.5%)

Total number of chromosomes

194

20

214(100%)

  1. 1,2 Novel mutations found in this study.